Results
|
221.
|
CCDC151 mutations cause primary ciliary dyskinesia by disruption of the outer dynein arm docking complex formation. [electronic resource] by
- Hjeij, Rim
- Onoufriadis, Alexandros
- Watson, Christopher M
- Slagle, Christopher E
- Klena, Nikolai T
- Dougherty, Gerard W
- Kurkowiak, Małgorzata
- Loges, Niki T
- Diggle, Christine P
- Morante, Nicholas F C
- Gabriel, George C
- Lemke, Kristi L
- Li, You
- Pennekamp, Petra
- Menchen, Tabea
- Konert, Franziska
- Marthin, June Kehlet
- Mans, Dorus A
- Letteboer, Stef J F
- Werner, Claudius
- Burgoyne, Thomas
- Westermann, Cordula
- Rutman, Andrew
- Carr, Ian M
- O'Callaghan, Christopher
- Moya, Eduardo
- Chung, Eddie M K
- Sheridan, Eamonn
- Nielsen, Kim G
- Roepman, Ronald
- Bartscherer, Kerstin
- Burdine, Rebecca D
- Lo, Cecilia W
- Omran, Heymut
- Mitchison, Hannah M
Producer: 20141030
In:
American journal of human genetics vol. 95
Availability: No items available.
|
|
222.
|
|
|
223.
|
Mutations in DNAH5 account for only 15% of a non-preselected cohort of patients with primary ciliary dyskinesia. [electronic resource] by
- Failly, M
- Bartoloni, L
- Letourneau, A
- Munoz, A
- Falconnet, E
- Rossier, C
- de Santi, M M
- Santamaria, F
- Sacco, O
- DeLozier-Blanchet, C D
- Lazor, R
- Blouin, J-L
Producer: 20090528
In:
Journal of medical genetics vol. 46
Availability: No items available.
|
|
224.
|
|
|
225.
|
Transcriptomic profiling of neural stem cell differentiation on graphene substrates. [electronic resource] by
- Tang, Mingliang
- Li, Jian
- He, Li
- Guo, Rongrong
- Yan, Xiaoqian
- Li, Dan
- Zhang, Yuhua
- Liao, Menghui
- Shao, Buwei
- Hu, Yangnan
- Liu, Yun
- Tang, Qilin
- Xia, Lin
- Guo, Xing
- Chai, Renjie
Producer: 20200210
In:
Colloids and surfaces. B, Biointerfaces vol. 182
Availability: No items available.
|
|
226.
|
Diagnosis of Primary Ciliary Dyskinesia by a Targeted Next-Generation Sequencing Panel: Molecular and Clinical Findings in Italian Patients. [electronic resource] by
- Boaretto, Francesca
- Snijders, Deborah
- Salvoro, Cecilia
- Spalletta, Ambra
- Mostacciuolo, Maria Luisa
- Collura, Mirella
- Cazzato, Salvatore
- Girosi, Donatella
- Silvestri, Michela
- Rossi, Giovanni Arturo
- Barbato, Angelo
- Vazza, Giovanni
Producer: 20170615
In:
The Journal of molecular diagnostics : JMD vol. 18
Availability: No items available.
|
|
227.
|
|
|
228.
|
|
|
229.
|
|
|
230.
|
Identification of four novel genes contributing to familial elevated plasma HDL cholesterol in humans. [electronic resource] by
- Singaraja, Roshni R
- Tietjen, Ian
- Hovingh, G Kees
- Franchini, Patrick L
- Radomski, Chris
- Wong, Kenny
- vanHeek, Margaret
- Stylianou, Ioannis M
- Lin, Linus
- Wang, Liangsu
- Mitnaul, Lyndon
- Hubbard, Brian
- Winther, Michael
- Mattice, Maryanne
- Legendre, Annick
- Sherrington, Robin
- Kastelein, John J
- Akinsanya, Karen
- Plump, Andrew
- Hayden, Michael R
Producer: 20180111
In:
Journal of lipid research vol. 55
Availability: No items available.
|
|
231.
|
Whole-Exome Sequencing and Targeted Copy Number Analysis in Primary Ciliary Dyskinesia. [electronic resource] by
- Marshall, Christian R
- Scherer, Stephen W
- Zariwala, Maimoona A
- Lau, Lynette
- Paton, Tara A
- Stockley, Tracy
- Jobling, Rebekah K
- Ray, Peter N
- Knowles, Michael R
- Hall, David A
- Dell, Sharon D
- Kim, Raymond H
Producer: 20160512
In:
G3 (Bethesda, Md.) vol. 5
Availability: No items available.
|
|
232.
|
Mutations in axonemal dynein assembly factor DNAAF3 cause primary ciliary dyskinesia. [electronic resource] by
- Mitchison, Hannah M
- Schmidts, Miriam
- Loges, Niki T
- Freshour, Judy
- Dritsoula, Athina
- Hirst, Rob A
- O'Callaghan, Christopher
- Blau, Hannah
- Al Dabbagh, Maha
- Olbrich, Heike
- Beales, Philip L
- Yagi, Toshiki
- Mussaffi, Huda
- Chung, Eddie M K
- Omran, Heymut
- Mitchell, David R
Producer: 20120530
In:
Nature genetics vol. 44
Availability: No items available.
|
|
233.
|
Identification of a homozygous splice site mutation in the dynein axonemal light chain 4 gene on 22q13.1 in a large consanguineous family from Pakistan with congenital mirror movement disorder. [electronic resource] by
- Ahmed, Iltaf
- Mittal, Kirti
- Sheikh, Taimoor I
- Vasli, Nasim
- Rafiq, Muhammad Arshad
- Mikhailov, Anna
- Ohadi, Mehrnaz
- Mahmood, Huda
- Rouleau, Guy A
- Bhatti, Attya
- Ayub, Muhammad
- Srour, Myriam
- John, Peter
- Vincent, John B
Producer: 20141203
In:
Human genetics vol. 133
Availability: No items available.
|
|
234.
|
ZMYND10 is mutated in primary ciliary dyskinesia and interacts with LRRC6. [electronic resource] by
- Zariwala, Maimoona A
- Gee, Heon Yung
- Kurkowiak, Małgorzata
- Al-Mutairi, Dalal A
- Leigh, Margaret W
- Hurd, Toby W
- Hjeij, Rim
- Dell, Sharon D
- Chaki, Moumita
- Dougherty, Gerard W
- Adan, Mohamed
- Spear, Philip C
- Esteve-Rudd, Julian
- Loges, Niki T
- Rosenfeld, Margaret
- Diaz, Katrina A
- Olbrich, Heike
- Wolf, Whitney E
- Sheridan, Eamonn
- Batten, Trevor F C
- Halbritter, Jan
- Porath, Jonathan D
- Kohl, Stefan
- Lovric, Svjetlana
- Hwang, Daw-Yang
- Pittman, Jessica E
- Burns, Kimberlie A
- Ferkol, Thomas W
- Sagel, Scott D
- Olivier, Kenneth N
- Morgan, Lucy C
- Werner, Claudius
- Raidt, Johanna
- Pennekamp, Petra
- Sun, Zhaoxia
- Zhou, Weibin
- Airik, Rannar
- Natarajan, Sivakumar
- Allen, Susan J
- Amirav, Israel
- Wieczorek, Dagmar
- Landwehr, Kerstin
- Nielsen, Kim
- Schwerk, Nicolaus
- Sertic, Jadranka
- Köhler, Gabriele
- Washburn, Joseph
- Levy, Shawn
- Fan, Shuling
- Koerner-Rettberg, Cordula
- Amselem, Serge
- Williams, David S
- Mitchell, Brian J
- Drummond, Iain A
- Otto, Edgar A
- Omran, Heymut
- Knowles, Michael R
- Hildebrandt, Friedhelm
Producer: 20131217
In:
American journal of human genetics vol. 93
Availability: No items available.
|
|
235.
|
|
|
236.
|
|
|
237.
|
BMI-1 extends proliferative potential of human bronchial epithelial cells while retaining their mucociliary differentiation capacity. [electronic resource] by
- Munye, Mustafa M
- Shoemark, Amelia
- Hirst, Robert A
- Delhove, Juliette M
- Sharp, Tyson V
- McKay, Tristan R
- O'Callaghan, Christopher
- Baines, Deborah L
- Howe, Steven J
- Hart, Stephen L
Producer: 20170612
In:
American journal of physiology. Lung cellular and molecular physiology vol. 312
Availability: No items available.
|
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238.
|
|
|
239.
|
|
|
240.
|
Axonemal beta heavy chain dynein DNAH9: cDNA sequence, genomic structure, and investigation of its role in primary ciliary dyskinesia. [electronic resource] by
- Bartoloni, L
- Blouin, J L
- Maiti, A K
- Sainsbury, A
- Rossier, C
- Gehrig, C
- She, J X
- Marron, M P
- Lander, E S
- Meeks, M
- Chung, E
- Armengot, M
- Jorissen, M
- Scott, H S
- Delozier-Blanchet, C D
- Gardiner, R M
- Antonarakis, S E
Producer: 20010719
In:
Genomics vol. 72
Availability: No items available.
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